NR2F2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NR2F2 (HGNC:7976) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
nuclear receptor subfamily 2 group F member 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ARP1, TFCOUP2
Alias symbols
COUP-TFII, COUPTFB, SVP40, NF-E3, COUPTF2
%HI
5.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.2(Read more about gnomAD LOEUF score)
Cytoband
15q26.2
Genomic Coordinates
GRCh37/hg19: chr15:96869275-96883492 NCBI Ensembl UCSC
GRCh38/hg38: chr15:96326046-96340263 NCBI Ensembl UCSC
MANE Select Transcript
NM_021005.4 ENST00000394166.8 (Read more about MANE Select)
Function
Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A. May be required to establish ovary identity during early gonad development (PubMed:29478779). {ECO:0000269|PubMed:18798693, ECO:0000269|PubMed:1899293, ECO:0000269|PubMed:29478779, ECO:0000269|PubMed:9343308}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7687
ClinGen Curation ID:
CCID:007573
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/10/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
PMID:21172461 Nakamura et al. (2011) propose NR2F2 as a candidate gene for congenital heart defects based on a 5.8 Mb deletion detected in a patient and comparison mapping with previous reports of deletions of 15q26. All of the reported deletions contain multiple genes.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)